Anne Mantel-Guiochon
Paris, 94270, France
Last Updated: 09/26/2026
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Found 55 publications
Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009-2019).
Journal: Revue neurologique
Published: May 16, 2023
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Journal: Genes
Published: January 05, 2022
Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.
Journal: The lancet. Diabetes & endocrinology
Published: June 26, 2021
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory.
Journal: Clinical chemistry
Published: June 21, 2021
Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome.
Journal: Andrologia
Published: July 02, 2020
Testosterone levels and cause-specific mortality in the older French men without metabolic syndrome.
Testosterone levels and cause-specific mortality in the older French men without metabolic syndrome.
Journal: Epidemiology and health
Published: April 10, 2020
Conjunctival lymphangiectasia: a novel ocular manifestation of hereditary transthyretin amyloidosis.
Conjunctival lymphangiectasia: a novel ocular manifestation of hereditary transthyretin amyloidosis.
Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
Published: May 11, 2019
Upper limb onset of hereditary transthyretin amyloidosis is common in non-endemic areas.
Journal: European journal of neurology
Published: August 20, 2018
Angiographic Signatures of the Predominant Form of Familial Transthyretin Amyloidosis (Val30Met Mutation).
Journal: American journal of ophthalmology
Published: April 11, 2018
Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused by GNRHR mutations and women with polycystic ovary syndrome.
Journal: Human reproduction (Oxford, England)
Published: March 31, 2018
Oestradiol level, oestrogen receptors, and mortality in elderly men: The three-city cohort study.
Journal: Clinical endocrinology
Published: March 28, 2018
Testosterone and All-Cause Mortality in Older Men: The Role of Metabolic Syndrome.
Journal: Journal of the Endocrine Society
Published: January 04, 2018
Last Updated: 09/26/2026